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Disease Profile

Sea-Blue histiocytosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

D76.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Histiocytosis, sea-blue; Sea-Blue histiocyte disease; Inherited Lipemic Splenomegaly

Categories

Congenital and Genetic Diseases; Metabolic disorders

Summary

Sea-blue histiocytosis, also known as inherited lipemic splenomegaly, is an extremely rare condition characterized by elevated triglyceride levels (hypertriglyceridemia) and an enlarged spleen (splenomegaly).[1] The disorder is so named because certain white blood cells, known as histiocytes, appear bright blue when stained and viewed under the microscope.[2] Additional signs and symptoms may include a low platelet count (thrombocytopenia), liver function abnormalities, and heart disease. It is one of a group of related fat (lipid) disorders caused by certain changes in the APOE gene. The genetic change associated with this condition is inherited in an autosomal dominant manner though other factors, such as a patient's gender, the patient's lipid levels, and the genetic makeup of the other APOE gene may play a role in how the condition is expressed. There are currently no formal treatment guidelines. Management may involve the coordinated care of several different specialists including cardiologists, gastroenterologists, and hematologists. Patients with splenomegaly should be careful to avoid contact sports. Removal of the spleen (splenectomy) has been reported to make the condition worse.[1]

Sea-blue histiocytes can also be a secondary finding associated with a wide range of disorders, including myelodysplastic syndromes, lymphomas, chronic myelogenous leukemia, idiopathic thrombocytopenic purpura, Niemann-Pick disease, and Norum disease.[3][4][5] In these cases, treatment depends on the underlying disorder.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Blepharitis
Inflammation of eyelids
0000498
Edema
Fluid retention
Water retention

[ more ]

0000969
Hepatomegaly
Enlarged liver
0002240
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Petechiae
0000967
Sea-blue histiocytosis
0001982
Splenomegaly
Increased spleen size
0001744
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Pulmonary infiltrates
Lung infiltrates
0002113
5%-29% of people have these symptoms
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypopigmentation of the skin
Patchy lightened skin
0001010
Retinopathy
Noninflammatory retina disease
0000488
Percent of people who have these symptoms is not available through HPO
Abnormality of the eye
Abnormal eye
0000478
Absent axillary hair
0002221
Autosomal recessive inheritance
0000007
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Sea-Blue histiocytosis. Click on the link to view a sample search on this topic.

      References

      1. Greyshock, Nicole, et al.. APOE p.Leu167del-Related Lipid Disorders. GeneReviews. June 12, 2014; https://www.ncbi.nlm.nih.gov/books/NBK208534/.
      2. SEA-BLUE HISTIOCYTE DISEASE. Online Mendelian Inheritance in Man (OMIM). June, 2009; https://www.omim.org/entry/269600. Accessed 12/9/2016.
      3. Bakheet, Saad Eldeen, et al.. Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma. Indian J Hematol Blood Transfusion. June, 2016; 32(Suppl 1):262-6. https://www.ncbi.nlm.nih.gov/pubmed/?term=27408409. Accessed 12/9/2016.
      4. Pongas, Georgios. Sea-blue–colored histiocytes associated with bone marrow granulomas. Blood. 2013; 122:475. https://www.bloodjournal.org/content/122/4/475?sso-checked=true. Accessed 12/9/2016.
      5. Sea-Blue histiocytosis. CheckOrphan. https://www.checkorphan.org/diseases/sea-blue-histiocytosis. Accessed 12/9/2016.